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    PMS2P1 PMS1 homolog 2, mismatch repair system component pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 5379, updated on 9-Dec-2024

    Summary

    Official Symbol
    PMS2P1provided by HGNC
    Official Full Name
    PMS1 homolog 2, mismatch repair system component pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:9123
    See related
    Ensembl:ENSG00000291178 MIM:605038; AllianceGenome:HGNC:9123
    Gene type
    pseudo
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PMS3; PMS8; PMSR1; PMSR2; PMS2L1; PMS2L6; PMS2L7; PMS2L8; PMS2L13
    Summary
    Predicted to enable ATP hydrolysis activity; ATP-dependent DNA damage sensor activity; and kinase activity. Predicted to be involved in mismatch repair and phosphorylation. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 11.1), testis (RPKM 10.2) and 25 other tissues See more
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    Genomic context

    See PMS2P1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100320640..100336307, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101560726..101576392, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99918263..99933930, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene STAG3 cohesin complex component Neighboring gene CASTOR family member 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26350 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26351 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26352 Neighboring gene PVR related immunoglobulin domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99844389-99845186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99845985-99846781 Neighboring gene uncharacterized LOC105375426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99866902-99867424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99867949-99868470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18429 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99886514-99886677 Neighboring gene STAG3L5P-PVRIG2P-PILRB readthrough Neighboring gene speedy/RINGO cell cycle regulator family member E3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99932790-99933668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26355 Neighboring gene STAG3 cohesin complex component like 5, pseudogene Neighboring gene PVR related immunoglobulin domain containing 2, pseudogene Neighboring gene microRNA 6840

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Other Names

    • postmeiotic segregation increased 2 pseudogene 1
    • postmeiotic segregation increased 2-like 1 pseudogene
    • postmeiotic segregation increased 2-like 5
    • postmeiotic segregation increased 2-like 6
    • postmeiotic segregation increased 2-like 7
    • postmeiotic segregation increased 2-like 8

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of mismatch repair complex IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_003613.1 RNA Sequence

      Status: PROVISIONAL

      Source sequence(s)
      AB017004, DA706474
      Related
      ENST00000689817.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100320640..100336307 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101560726..101576392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005394.1: Suppressed sequence

      Description
      NM_005394.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.